pacman dysplasia
Findings
No curated finding names pacman dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.
Definition from the Mondo Disease Ontology (MONDO:0008175), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bone ossificationHPOHP:0011849
- Very frequent (80% to 99% of cases)
- Abnormal calvaria morphologyHPOHP:0002683
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Coarse metaphyseal trabecularizationHPOHP:0100670
- Very frequent (80% to 99% of cases)
- Coronal cleft vertebraeHPOHP:0003417
- Very frequent (80% to 99% of cases)
- Epiphyseal stipplingHPOHP:0010655
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: pacman dysplasia
- Also called
- epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome